Novel thiazide-sensitive Na-Cl cotransporter mutation in a Chinese patient with Gitelman's syndrome presenting as hypokalaemic paralysis

被引：13

作者：

Cheng, NL

Kao, MC

Hsu, YD

Lin, SH

机构：

[1] Triserv Gen Hosp, Natl Def Med Ctr, Dept Med, Div Nephrol, Taipei, Taiwan

[2] Triserv Gen Hosp, Natl Def Med Ctr, Dept Neurol, Taipei, Taiwan

[3] Natl Def Med Ctr, Dept Biochem, Taipei 10764, Taiwan

来源：

NEPHROLOGY DIALYSIS TRANSPLANTATION | 2003年 / 18卷 / 05期

关键词：

Gitelman's syndrome; hypocalciuria; hypokalaemia; mutation; paralysis;

D O I：

10.1093/ndt/gfg073

中图分类号：

R3 [基础医学]; R4 [临床医学];

学科分类号：

1001 [基础医学]; 1002 [临床医学]; 100602 [中西医结合临床];

摘要：

[No abstract available]

引用

页码：1005 / 1008

页数：4

共 10 条

[1]

Gitelman's syndrome revisited: An evaluation of symptoms and health-related quality of life [J].

Cruz, DN ;

Shaer, AJ ;

Bia, MJ ;

Lifton, RP ;

Simon, DB .

KIDNEY INTERNATIONAL, 2001, 59 (02) :710-717

[2]

Functional expression of mutations in the human NaCl cotransporter: Evidence for impaired routing mechanisms in Gitelman's syndrome [J].

De Jong, JC ;

Van der Vliet, WA ;

Van den Heuvel, LPWJ ;

Willems, PHGM ;

Knoers, NVAM ;

Bindels, RJM .

JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2002, 13 (06) :1442-1448

[3]

Gitelman HJ, 1966, T ASSOC AM PHYSICIAN, V79, P92

[4]

Defective processing and expression of thiazide-sensitive Na-Cl cotransporter as a cause of Gitelman's syndrome [J].

Kunchaparty, S ;

Palcso, M ;

Berkman, J ;

Velázquez, H ;

Desir, GV ;

Bernstein, P ;

Reilly, RF ;

Ellison, DH .

AMERICAN JOURNAL OF PHYSIOLOGY-RENAL PHYSIOLOGY, 1999, 277 (04) :F643-F649

[5]

Novel mutations in the thiazide-sensitive NaCl cotransporter gene in patients with Gitelman syndrome with predominant localization to the C-terminal domain [J].

Lemmink, HH ;

Knoers, NVAM ;

Károlyi, L ;

van Dijk, H ;

Niaudet, P ;

Antignac, C ;

Guay-Woodford, LM ;

Goodyer, PR ;

Carel, JC ;

Hermes, A ;

Seyberth, HW ;

Monnens, LAH ;

van den Heuvel, LPWJ .

KIDNEY INTERNATIONAL, 1998, 54 (03) :720-730

[6]

Hypokalaemia and paralysis [J].

Lin, SH ;

Lin, YF ;

Halperin, ML .

QJM-MONTHLY JOURNAL OF THE ASSOCIATION OF PHYSICIANS, 2001, 94 (03) :133-139

[7]

Mastroianni N, 1996, AM J HUM GENET, V59, P1019

[8]

Clinical presentation of genetically defined patients with hypokalemic salt-losing tubulopathies [J].

Peters, M ;

Jeck, N ;

Reinalter, S ;

Leonhardt, A ;

Tönshoff, B ;

Klaus, G ;

Konrad, M ;

Seyberth, HW .

AMERICAN JOURNAL OF MEDICINE, 2002, 112 (03) :183-190

[9]

Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter [J].

Simon, DB ;

NelsonWilliams, C ;

Bia, MJ ;

Ellison, D ;

Karet, FE ;

Molina, AM ;

Vaara, I ;

Iwata, F ;

Cushner, HM ;

Koolen, M ;

Gainza, FJ ;

Gitelman, HJ ;

Lifton, RP .

NATURE GENETICS, 1996, 12 (01) :24-30

[10]

Syren Marie-Louise, 2002, Hum Mutat, V20, P78, DOI 10.1002/humu.9045

← 1 →